ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.6240_6259del (p.Pro2081fs)

dbSNP: rs2128939085
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001384943 SCV001584639 pathogenic Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2022-08-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro2081Leufs*2) in the FLNC gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FLNC are known to be pathogenic (PMID: 27908349). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with dilated cardiomyopathy (PMID: 27908349, 28416588). ClinVar contains an entry for this variant (Variation ID: 1072270). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV001545499 SCV001764841 pathogenic not provided 2023-02-03 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 27908349, 28416588)

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